Mutagenetix > Incidental Mutation

Incidental Mutation 'R4921:Msr1'

378588

Institutional Source

Beutler Lab

Gene Symbol

Msr1

Ensembl Gene

ENSMUSG00000025044

Gene Name

macrophage scavenger receptor 1

Synonyms

SR-AII, Scara1, MRS-A, Scvr, MSR-A, SR-AI

MMRRC Submission

042523-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40034726-40095714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40077292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 106 (E106G)

Ref Sequence

ENSEMBL: ENSMUSP00000132535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026021] [ENSMUST00000170091] [ENSMUST00000210525]

AlphaFold

P30204

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026021
AA Change: E106G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: E106G

Domain	Start	End	E-Value	Type
transmembrane domain	58	80	N/A	INTRINSIC
Pfam:Macscav_rec	125	173	1.5e-28	PFAM
coiled coil region	209	259	N/A	INTRINSIC
Pfam:Collagen	275	330	3.2e-11	PFAM
Pfam:Collagen	295	353	4.8e-10	PFAM
SR	357	457	5.68e-56	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170091
AA Change: E106G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132535
Gene: ENSMUSG00000025044
AA Change: E106G

Domain	Start	End	E-Value	Type
transmembrane domain	58	80	N/A	INTRINSIC
Pfam:Macscav_rec	125	173	6.6e-34	PFAM
Pfam:Collagen	275	330	1.9e-10	PFAM
Pfam:Collagen	292	352	7.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210681

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal uptake and degradation of acetylated low density lipoproteins by macrophages, increased interleukin-12 secretion in response to CpG oligodeoxynucleotide administration, and increased bacterial and viral infection induced morbidity/mortality. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,662 (GRCm39)	N65K	probably benign	Het
Abcc9	T	C	6: 142,536,162 (GRCm39)	Y1524C	probably benign	Het
Acap1	A	G	11: 69,778,019 (GRCm39)	I102T	probably damaging	Het
Acvr2a	T	C	2: 48,783,553 (GRCm39)	V284A	possibly damaging	Het
Adam3	T	C	8: 25,174,630 (GRCm39)	M712V	probably benign	Het
Adck1	T	C	12: 88,407,908 (GRCm39)	V213A	probably benign	Het
Adgrl3	G	T	5: 81,659,957 (GRCm39)	W242L	probably damaging	Het
Alk	T	C	17: 72,211,310 (GRCm39)	T857A	probably benign	Het
Alms1	A	G	6: 85,605,528 (GRCm39)	T2393A	probably benign	Het
Ank3	C	T	10: 69,837,939 (GRCm39)	P240L	probably damaging	Het
Ankrd35	C	A	3: 96,592,140 (GRCm39)	L809M	possibly damaging	Het
Birc6	T	A	17: 74,957,094 (GRCm39)	L3690Q	probably damaging	Het
Bmp3	C	A	5: 99,019,920 (GRCm39)	F114L	probably damaging	Het
Cage1	G	A	13: 38,203,184 (GRCm39)	H627Y	probably benign	Het
Cars1	T	C	7: 143,123,212 (GRCm39)	D468G	probably damaging	Het
Ccdc148	T	C	2: 58,719,814 (GRCm39)	E487G	probably damaging	Het
Ccdc80	A	T	16: 44,938,530 (GRCm39)	I746F	probably damaging	Het
Ccl25	A	G	8: 4,403,913 (GRCm39)	Q119R	possibly damaging	Het
Cdh24	C	T	14: 54,870,672 (GRCm39)	D178N	probably damaging	Het
Cdk12	A	T	11: 98,113,513 (GRCm39)	T766S	unknown	Het
Chst15	T	A	7: 131,849,613 (GRCm39)	T443S	probably benign	Het
Cnbp	T	C	6: 87,822,128 (GRCm39)	D125G	possibly damaging	Het
Cntn2	A	T	1: 132,443,770 (GRCm39)	V1003E	possibly damaging	Het
Crct1	A	G	3: 92,922,132 (GRCm39)		probably benign	Het
Dand5	C	T	8: 85,543,113 (GRCm39)	C121Y	probably damaging	Het
Dmkn	A	T	7: 30,470,658 (GRCm39)	D382V	probably damaging	Het
Dnase2b	T	A	3: 146,299,196 (GRCm39)	T86S	probably damaging	Het
Dusp8	GCCACCACCACCACCACCACCACC	GCCACCACCACCACCACCACC	7: 141,635,891 (GRCm39)		probably benign	Het
Eef1akmt1	C	T	14: 57,788,089 (GRCm39)	V90M	probably damaging	Het
Egfl7	G	T	2: 26,480,992 (GRCm39)	W168L	probably benign	Het
Ep400	A	G	5: 110,813,676 (GRCm39)	C2908R	probably damaging	Het
Espl1	A	G	15: 102,223,676 (GRCm39)	K1076E	probably damaging	Het
Exoc4	A	G	6: 33,887,452 (GRCm39)	N747D	probably benign	Het
Fancm	T	C	12: 65,123,915 (GRCm39)	V191A	probably benign	Het
Fbxo17	A	G	7: 28,432,214 (GRCm39)	D97G	probably benign	Het
Fer1l6	G	T	15: 58,472,160 (GRCm39)		probably null	Het
Flt4	T	C	11: 49,517,970 (GRCm39)	W337R	probably damaging	Het
Fpr-rs7	T	C	17: 20,334,082 (GRCm39)	H136R	possibly damaging	Het
Frem3	T	A	8: 81,339,765 (GRCm39)	I686N	possibly damaging	Het
Galnt9	A	G	5: 110,725,315 (GRCm39)	K84R	probably damaging	Het
Gfm2	T	A	13: 97,312,184 (GRCm39)	M760K	probably damaging	Het
Glis3	T	C	19: 28,643,504 (GRCm39)	T13A	probably damaging	Het
H2-K2	A	G	17: 34,216,050 (GRCm39)	V323A	possibly damaging	Het
Hbb-bs	G	A	7: 103,475,927 (GRCm39)	A130V	probably damaging	Het
Herc2	T	A	7: 55,879,438 (GRCm39)	H4685Q	probably benign	Het
Ighv5-9-1	C	T	12: 113,699,914 (GRCm39)	R56H	possibly damaging	Het
Itgb4	A	G	11: 115,897,431 (GRCm39)	N1548S	probably benign	Het
Itpr3	T	C	17: 27,316,979 (GRCm39)	Y745H	probably damaging	Het
Kank3	G	T	17: 34,036,174 (GRCm39)	G14V	probably damaging	Het
Kif24	G	T	4: 41,394,329 (GRCm39)	S982Y	probably damaging	Het
Kifc5b	C	T	17: 27,139,997 (GRCm39)	R53W	probably damaging	Het
Krt39	A	G	11: 99,405,575 (GRCm39)	S442P	possibly damaging	Het
Lcat	G	A	8: 106,669,074 (GRCm39)	P67L	possibly damaging	Het
Maml2	T	C	9: 13,532,471 (GRCm39)	S562P	probably damaging	Het
Map3k8	G	A	18: 4,349,124 (GRCm39)	R65W	possibly damaging	Het
Mbd3	G	T	10: 80,231,410 (GRCm39)	R12S	probably damaging	Het
Myh4	T	A	11: 67,144,854 (GRCm39)	L1256Q	probably damaging	Het
Mypn	G	A	10: 62,983,715 (GRCm39)	T511M	possibly damaging	Het
Nub1	A	T	5: 24,906,467 (GRCm39)	N331I	probably benign	Het
Nup107	A	G	10: 117,606,416 (GRCm39)	V440A	possibly damaging	Het
Ofcc1	A	G	13: 40,367,993 (GRCm39)	F174L	probably benign	Het
Or10d5	A	C	9: 39,861,521 (GRCm39)	V182G	probably damaging	Het
Or52ab2	A	T	7: 102,969,750 (GRCm39)	N44I	probably damaging	Het
Or9q2	T	C	19: 13,772,829 (GRCm39)	I49V	probably benign	Het
Parp2	C	A	14: 51,056,725 (GRCm39)	L310I	probably damaging	Het
Pcdh20	A	G	14: 88,707,162 (GRCm39)	V46A	probably benign	Het
Pcdhgb6	A	G	18: 37,876,525 (GRCm39)	D411G	probably damaging	Het
Pkd1l2	T	C	8: 117,781,624 (GRCm39)	E807G	probably benign	Het
Pkd1l2	A	T	8: 117,799,288 (GRCm39)	N267K	probably damaging	Het
Pramel24	A	T	4: 143,454,896 (GRCm39)	K398M	possibly damaging	Het
Rell1	C	A	5: 64,093,376 (GRCm39)	M126I	probably damaging	Het
Robo4	G	A	9: 37,313,856 (GRCm39)	E36K	probably benign	Het
Rpgrip1l	T	C	8: 91,987,637 (GRCm39)	S807G	probably benign	Het
Rpl10a	T	C	17: 28,549,826 (GRCm39)	V169A	probably benign	Het
Rubcn	C	T	16: 32,667,664 (GRCm39)	V166I	probably damaging	Het
Sall2	T	C	14: 52,552,850 (GRCm39)	E113G	possibly damaging	Het
Sars2	T	C	7: 28,451,863 (GRCm39)	S423P	possibly damaging	Het
Scaper	A	G	9: 55,799,519 (GRCm39)	I182T	probably benign	Het
Selp	A	G	1: 163,968,966 (GRCm39)	D522G	possibly damaging	Het
Sema4b	T	A	7: 79,848,504 (GRCm39)	I35N	possibly damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm39)	F268I	probably damaging	Het
Slc14a2	G	T	18: 78,235,403 (GRCm39)	A258E	probably damaging	Het
Slc17a9	T	C	2: 180,377,742 (GRCm39)	Y213H	probably benign	Het
Slc22a7	T	G	17: 46,747,859 (GRCm39)	I233L	probably benign	Het
Slc35f1	A	G	10: 52,938,698 (GRCm39)	Q210R	probably damaging	Het
Slc6a21	A	G	7: 44,937,734 (GRCm39)	E350G	possibly damaging	Het
Spata21	A	T	4: 140,839,402 (GRCm39)	D639V	probably damaging	Het
Svil	A	G	18: 5,108,631 (GRCm39)	D1519G	probably damaging	Het
Tbccd1	T	C	16: 22,660,649 (GRCm39)	T56A	probably benign	Het
Tigit	A	T	16: 43,482,380 (GRCm39)	I118N	probably damaging	Het
Tlr11	A	T	14: 50,600,342 (GRCm39)	Q776L	possibly damaging	Het
Tspan12	A	C	6: 21,835,448 (GRCm39)	I9S	possibly damaging	Het
Unc5c	T	A	3: 141,494,727 (GRCm39)	Y347N	probably damaging	Het
Unk	A	G	11: 115,945,771 (GRCm39)	T481A	probably benign	Het
Vmn1r192	A	C	13: 22,371,650 (GRCm39)	V190G	probably damaging	Het
Vnn3	A	T	10: 23,740,473 (GRCm39)	M259L	probably benign	Het
Zan	T	C	5: 137,406,632 (GRCm39)		probably benign	Het
Zdhhc6	T	C	19: 55,301,642 (GRCm39)	H113R	probably damaging	Het

Other mutations in Msr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01535:Msr1	APN	8	40,064,714 (GRCm39)	missense	probably benign	0.42
IGL02047:Msr1	APN	8	40,077,001 (GRCm39)	missense	probably benign	0.03
IGL02218:Msr1	APN	8	40,042,357 (GRCm39)	missense	possibly damaging	0.51
IGL02347:Msr1	APN	8	40,085,778 (GRCm39)	missense	probably damaging	1.00
IGL02546:Msr1	APN	8	40,068,788 (GRCm39)	missense	probably benign
IGL02707:Msr1	APN	8	40,085,870 (GRCm39)	splice site	probably benign
IGL03340:Msr1	APN	8	40,073,048 (GRCm39)	missense	possibly damaging	0.53
R0349:Msr1	UTSW	8	40,034,868 (GRCm39)	missense	probably damaging	1.00
R0378:Msr1	UTSW	8	40,042,423 (GRCm39)	missense	possibly damaging	0.92
R0633:Msr1	UTSW	8	40,073,041 (GRCm39)	missense	probably damaging	0.99
R1386:Msr1	UTSW	8	40,042,334 (GRCm39)	nonsense	probably null
R1807:Msr1	UTSW	8	40,072,948 (GRCm39)	missense	probably benign	0.33
R2039:Msr1	UTSW	8	40,042,418 (GRCm39)	missense	probably damaging	1.00
R2174:Msr1	UTSW	8	40,084,381 (GRCm39)	missense	probably damaging	1.00
R2291:Msr1	UTSW	8	40,077,263 (GRCm39)	missense	probably benign	0.03
R3983:Msr1	UTSW	8	40,073,059 (GRCm39)	missense	possibly damaging	0.89
R4807:Msr1	UTSW	8	40,095,668 (GRCm39)	start gained	probably benign
R5055:Msr1	UTSW	8	40,076,997 (GRCm39)	missense	possibly damaging	0.78
R5567:Msr1	UTSW	8	40,064,760 (GRCm39)	missense	probably benign
R5570:Msr1	UTSW	8	40,064,760 (GRCm39)	missense	probably benign
R5871:Msr1	UTSW	8	40,064,693 (GRCm39)	missense	probably damaging	0.97
R5914:Msr1	UTSW	8	40,034,868 (GRCm39)	missense	probably damaging	1.00
R6141:Msr1	UTSW	8	40,084,360 (GRCm39)	missense	probably damaging	1.00
R6429:Msr1	UTSW	8	40,068,858 (GRCm39)	missense	probably damaging	0.99
R6519:Msr1	UTSW	8	40,077,262 (GRCm39)	missense	probably benign
R6527:Msr1	UTSW	8	40,077,274 (GRCm39)	missense	possibly damaging	0.72
R6842:Msr1	UTSW	8	40,085,866 (GRCm39)	missense	probably benign	0.01
R7006:Msr1	UTSW	8	40,042,423 (GRCm39)	missense	probably damaging	0.99
R7047:Msr1	UTSW	8	40,095,657 (GRCm39)	missense	possibly damaging	0.92
R7135:Msr1	UTSW	8	40,042,465 (GRCm39)	missense	possibly damaging	0.93
R7552:Msr1	UTSW	8	40,077,003 (GRCm39)	missense	probably benign	0.19
R7837:Msr1	UTSW	8	40,034,873 (GRCm39)	missense	probably damaging	0.99
R8995:Msr1	UTSW	8	40,042,460 (GRCm39)	missense	possibly damaging	0.54
R9707:Msr1	UTSW	8	40,076,988 (GRCm39)	missense	probably benign	0.06
R9723:Msr1	UTSW	8	40,042,357 (GRCm39)	missense	possibly damaging	0.51
Z1177:Msr1	UTSW	8	40,084,343 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAATTCCCATGTTCCTGGACTG -3'
(R):5'- GCTAGCATTAAACACCCTTCAATGG -3'

Sequencing Primer
(F):5'- CATGTTCCTGGACTGACGAAATC -3'
(R):5'- CCCTTCAATGGGTGGGATTCAAAG -3'

Posted On

2016-04-15